List of works by Annet Bosch

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

scientific article

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

scientific article published on 16 May 2019

Adherence issues in inherited metabolic disorders treated by low natural protein diets.

scientific article published on 03 December 2012

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

scientific article published on 21 February 2019

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. ⬇️

scientific article

Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.

scientific article published on 24 September 2008

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

scientific article published on 20 December 2016

Bone health in phenylketonuria: a systematic review and meta-analysis

scientific article

Bone mineral density is within normal range in most adult phenylketonuria patients

scientific article published on 06 February 2020

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment ⬇️

scientific article

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria.

scientific article published on 29 May 2017

Classical galactosaemia revisited.

scientific article

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

scientific article published on 07 February 2020

Clinical features of galactokinase deficiency:A review of the literature ⬇️

scientific article published on December 1, 2002

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

scientific article published on 14 March 2016

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

scientific article

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

article

Cognitive functioning in patients with classical galactosemia: a systematic review

scientific article published on 18 October 2019

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

scientific article

Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development.

scientific article published on 06 October 2011

Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires

scientific article published on 10 May 2015

Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme

scientific article published on 21 May 2016

Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study

scientific article published on 25 September 2013

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

article

Galactosaemia - should it be screened in newborns?

scientific article published on 01 January 2018

Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age.

scientific article

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.

scientific article published on 16 September 2007

High tolerance for oral galactose in classical galactosaemia: dietary implications.

scientific article

Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome

scientific article published on 01 September 1998

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

scientific article published on 08 April 2019

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

scientific article

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

scientific article

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

scientific article published on 12 December 2014

Issues with European guidelines for phenylketonuria - Authors' reply.

scientific article published in September 2017

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

scientific article published on 9 January 2017

Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I

scientific article published on 16 May 2019

Living with classical galactosemia: health-related quality of life consequences.

scientific article

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.

scientific article

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

scientific article published on 20 May 2013

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study

scientific article published on 22 October 2013

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

scientific article

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

scientific article published on 27 February 2019

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes

scientific article published on 29 December 2016

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.

scientific article published on 20 April 2012

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.

scientific article

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

scientific article published on 10 January 2009

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

scientific article published on 25 January 2016

Predicting health-related quality of life of parents of children with inherited metabolic diseases.

scientific article published on 21 April 2009

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

scientific article published on 17 July 2019

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

scientific article published on 24 August 2018

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

scientific article published on 01 January 2019

Psychometric Validation of the Newly Developed Phenylketonuria- Quality of Life (Pku-Qol) Questionnaires Assessing the Impact of Phenylketonuria and Its Treatment On Patients' Quality of Life

scientific article published on 26 October 2014

Psychosocial aspects of PKU: hidden disabilities--a review.

scientific article published on January 2010

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

scientific article

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data

scientific article published on 21 March 2018

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

scientific article published on 08 November 2019

Remarkable differences: the course of life of young adults with galactosaemia and PKU

scientific article published on 10 October 2009

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

scientific article published on 16 January 2018

Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria

scientific article published on 19 September 2018

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia.

scientific article published on 11 November 2004

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

scientific article published on 25 February 2016

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

scientific article published on 9 April 2017

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

scientific article published on 10 July 2013

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration

scientific article published on 23 September 2011

The complete European guidelines on phenylketonuria: diagnosis and treatment.

scientific article published on 12 October 2017

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria.

scientific article published on 11 December 2006

The galactosemia network (GalNet).

scientific article published on 11 November 2016

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

scientific article published on 07 July 2018

The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.

scientific article published on 25 December 2011

The natural history of classic galactosemia: lessons from the GalNet registry

scientific article published on 27 April 2019

The need for additional care in patients with classical galactosaemia

scientific article published on 31 May 2018

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

scientific article published on 29 January 2016

[Bilateral cataract in childhood years: always an indication for screening on a metabolic disorder]

scientific article published on 01 March 2008

[Neonatal screening for metabolic diseases: need for efficacy studies]

scientific article published on 01 October 2008

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